Canonical Allele Identifier: CA1969336138
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342804_47342824delinsCCATGCCCCGTGCTTCTGGAA , CM000673.2:g.47342804_47342824delinsCCATGCCCCGTGCTTCTGGAA GRCh38
NC_000011.9:g.47364355_47364375delinsCCATGCCCCGTGCTTCTGGAA , CM000673.1:g.47364355_47364375delinsCCATGCCCCGTGCTTCTGGAA GRCh37
NC_000011.8:g.47320931_47320951delinsCCATGCCCCGTGCTTCTGGAA NCBI36
NG_007667.1:g.14879_14899delinsTTCCAGAAGCACGGGGCATGG , LRG_386:g.14879_14899delinsTTCCAGAAGCACGGGGCATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG MANE Select ENSP00000442795.1:n.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG...
ENST00000256993.8:c.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG ENSP00000256993.5:n.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG...
ENST00000399249.6:c.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG ENSP00000382193.2:n.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG...
ENST00000544791.1:c.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG ENSP00000444259.1:n.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG...
ENST00000545968.5:c.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG ENSP00000442795.1:n.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG...
NM_000256.3:c.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG , LRG_386t1:c.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG MANE Select NP_000247.2:n.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG
XM_011520117.1:c.1439+6_1439+26delinsTTCCAGAAGCACGGGGCATGG XP_011518419.1:n.1439+6_1439+26delinsTTCCAGAAGCACGGGGCATGG
XM_011520118.1:c.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG XP_011518420.1:n.1457+6_1457+26delinsTTCCAGAAGCACGGGGCATGG